Incidental Mutation 'R4382:Nagpa'
ID 325390
Institutional Source Beutler Lab
Gene Symbol Nagpa
Ensembl Gene ENSMUSG00000023143
Gene Name N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
Synonyms alpha-GlcNAcase, UCE
MMRRC Submission 041679-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # R4382 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 5013153-5021876 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5021819 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 10 (F10I)
Ref Sequence ENSEMBL: ENSMUSP00000023911 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023911] [ENSMUST00000147567]
AlphaFold Q8BJ48
Predicted Effect possibly damaging
Transcript: ENSMUST00000023911
AA Change: F10I

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000023911
Gene: ENSMUSG00000023143
AA Change: F10I

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 32 47 N/A INTRINSIC
Pfam:DUF2233 131 326 5.1e-42 PFAM
EGF_like 329 359 7.09e1 SMART
EGF 362 391 1.36e1 SMART
transmembrane domain 451 473 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144490
Predicted Effect probably benign
Transcript: ENSMUST00000147567
SMART Domains Protein: ENSMUSP00000117051
Gene: ENSMUSG00000023143

DomainStartEndE-ValueType
Pfam:DUF2233 1 183 2.1e-35 PFAM
EGF_like 186 216 7.09e1 SMART
EGF 219 248 1.36e1 SMART
transmembrane domain 308 330 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. The encoded preproprotein is proteolytically processed by furin to generate the mature enzyme, a homotetramer of two disulfide-linked homodimers. Mutations in this gene are associated with developmental stuttering in human patients. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a null allele have an increased level of acid hydrolases, however the hydrolases contain GlcNAc-P-Man diesters, exhibit a decreased affinity for the cation-independent mannose 6-phosphate receptor and fail to bind to the cation-dependent mannose 6-phosphate receptor. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm2 T A 4: 144,281,596 (GRCm39) T399S possibly damaging Het
Acp2 T C 2: 91,038,454 (GRCm39) S309P possibly damaging Het
Adam23 T C 1: 63,605,787 (GRCm39) Y624H probably damaging Het
B4galnt4 T C 7: 140,650,449 (GRCm39) V772A probably damaging Het
Boc A T 16: 44,311,545 (GRCm39) L726H probably damaging Het
Calr3 T A 8: 73,182,008 (GRCm39) D120V probably damaging Het
Ccdc92b G A 11: 74,520,842 (GRCm39) S48N probably damaging Het
Ceacam12 C T 7: 17,799,959 (GRCm39) probably benign Het
Clca3a1 T A 3: 144,466,483 (GRCm39) M1L probably benign Het
Cnot1 T C 8: 96,496,407 (GRCm39) T300A probably damaging Het
Col12a1 A T 9: 79,538,023 (GRCm39) Y2514* probably null Het
Col6a6 G A 9: 105,660,889 (GRCm39) R407W probably damaging Het
Csnk1g1 T C 9: 65,927,190 (GRCm39) V119A probably damaging Het
Cspg4b T C 13: 113,459,288 (GRCm39) I1273T probably benign Het
Ddx60 G A 8: 62,402,012 (GRCm39) probably null Het
Dnajb12 A T 10: 59,733,321 (GRCm39) K372N probably benign Het
Fhl5 A C 4: 25,200,118 (GRCm39) C239G probably benign Het
Gad2 G A 2: 22,575,422 (GRCm39) V509I probably benign Het
Glrb T A 3: 80,786,946 (GRCm39) R72S probably damaging Het
Gm6811 T C 17: 21,314,865 (GRCm39) noncoding transcript Het
Hecw1 C T 13: 14,490,749 (GRCm39) D748N probably damaging Het
Hk2 A T 6: 82,712,322 (GRCm39) L542Q probably null Het
Iglc1 A T 16: 18,880,508 (GRCm39) C104* probably null Het
Kel T A 6: 41,675,334 (GRCm39) T306S probably benign Het
Lpo T C 11: 87,713,027 (GRCm39) D25G probably benign Het
Mboat7 T A 7: 3,691,545 (GRCm39) Y109F possibly damaging Het
Myh15 T G 16: 48,963,306 (GRCm39) N1082K probably benign Het
Nagk A G 6: 83,774,993 (GRCm39) E90G probably benign Het
Or9a4 T A 6: 40,548,998 (GRCm39) L226H probably damaging Het
Otog T A 7: 45,939,122 (GRCm39) C2051S probably damaging Het
Ptpn6 A G 6: 124,704,361 (GRCm39) V315A possibly damaging Het
Rbp3 G C 14: 33,677,253 (GRCm39) E400D probably benign Het
Rnf41 T C 10: 128,272,392 (GRCm39) S140P probably benign Het
Ros1 C T 10: 51,997,055 (GRCm39) V1206I possibly damaging Het
Scgb2b12 T A 7: 32,024,870 (GRCm39) E112D probably benign Het
Serpinb3b T A 1: 107,083,273 (GRCm39) M210L probably damaging Het
Sipa1l1 A G 12: 82,493,596 (GRCm39) R1672G possibly damaging Het
Smc5 A G 19: 23,246,210 (GRCm39) S70P probably benign Het
Spen C T 4: 141,200,450 (GRCm39) G2703S possibly damaging Het
Stard9 C G 2: 120,464,703 (GRCm39) A56G probably damaging Het
Wtap A G 17: 13,194,307 (GRCm39) S87P probably damaging Het
Zzef1 T G 11: 72,765,938 (GRCm39) S1488R probably benign Het
Other mutations in Nagpa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01969:Nagpa APN 16 5,013,753 (GRCm39) missense probably benign 0.02
IGL02719:Nagpa APN 16 5,019,357 (GRCm39) missense possibly damaging 0.78
R1248:Nagpa UTSW 16 5,016,480 (GRCm39) nonsense probably null
R1465:Nagpa UTSW 16 5,019,392 (GRCm39) splice site probably benign
R1746:Nagpa UTSW 16 5,021,503 (GRCm39) missense probably damaging 0.96
R2919:Nagpa UTSW 16 5,021,651 (GRCm39) start gained probably benign
R5011:Nagpa UTSW 16 5,013,743 (GRCm39) missense probably benign
R5013:Nagpa UTSW 16 5,013,743 (GRCm39) missense probably benign
R5207:Nagpa UTSW 16 5,017,478 (GRCm39) critical splice donor site probably null
R5225:Nagpa UTSW 16 5,021,596 (GRCm39) missense probably benign 0.00
R5327:Nagpa UTSW 16 5,017,877 (GRCm39) missense possibly damaging 0.90
R6195:Nagpa UTSW 16 5,021,613 (GRCm39) missense probably damaging 0.98
R6539:Nagpa UTSW 16 5,021,565 (GRCm39) missense possibly damaging 0.79
R6874:Nagpa UTSW 16 5,013,921 (GRCm39) missense probably benign 0.08
R8225:Nagpa UTSW 16 5,016,724 (GRCm39) missense probably damaging 1.00
R9629:Nagpa UTSW 16 5,017,829 (GRCm39) missense probably damaging 1.00
Z1176:Nagpa UTSW 16 5,021,797 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GTCATCGTCGCGGGAAAC -3'
(R):5'- CACGAGTGGGCTGCAAGC -3'

Sequencing Primer
(F):5'- TCAGGAAAGGTGGACCCCA -3'
(R):5'- AGTCTCAAGTAGTCCAGACTGGTC -3'
Posted On 2015-07-06